Phenotypic expansion illuminates multilocus pathogenic variation


Karaca E., Posey J. E., Akdemir Z. C., Pehlivan D., Harel T., Jhangiani S. N., ...More

GENETICS IN MEDICINE, vol.20, no.12, pp.1528-1537, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 12
  • Publication Date: 2018
  • Doi Number: 10.1038/gim.2018.33
  • Journal Name: GENETICS IN MEDICINE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1528-1537
  • Çukurova University Affiliated: Yes

Abstract

Purpose: Multilocus variation-pathogenic variants in two or more disease genes-can potentially explain the underlying genetic basis for apparent phenotypic expansion in cases for which the observed clinical features extend beyond those reported in association with a "known" disease gene.